No paralogue variants have been mapped to residue 227 for KCNH2.
KCNH2 | DVDLTPAAPSSESLALDEVTAMDNHVAGLG>P<AEERRALVGPGS-----------------P | 240 |
KCNH1 | ------------------------------>-<------------------------------ | |
KCNH3 | ------------------------------>-<------------------------------ | |
KCNH4 | ------------------------------>-<------------------------------ | |
KCNH5 | ------------------------------>-<------------------------------ | |
KCNH6 | ------------------------------>P<G----------------------------- | 169 |
KCNH7 | DS----SKHSDDSVAMKHFKSPTKESCSPS>E<ADDTKALIQPSK-----------------C | 225 |
KCNH8 | ------------------------------>-<------------------------------ | |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | KEPQDWAETKEEPEAEAEAASSGVPATKQH>P<EVQVEDTDADSCPLMAEENPPSTVLPPPSP | 495 |
CNGB3 | TNIQDKLSKKN---------SSGDLTTNPD>P<QNAAEPTGT--------------------- | 97 |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P227T | c.679C>A | Putative Benign | rs199521633 | SIFT: tolerated Polyphen: benign |